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    Usher Syndrome — Symptoms, Types, Treatment & More

    Usher Syndrome — Symptoms, Types, Treatment & More

    Out of 70 known disorders that can result in deafblindness, the problem getting common nowadays is Usher Syndrome. 

    Usher syndrome was first acknowledged in 1914 as a hereditary disorder that manifests when two genetic mutations pass the gene to their child. But this does not mean all children born through the same genetic mutations may develop this syndrome. That implies chances of usher syndrome inheritance are not 100% underwritten.

    Let us know through this article the probable symptoms, causes, and reasonable treatment procedures of this rare genetic disorder. 

    What Is Usher Syndrome?

    Usher syndrome is a condition that induces hearing and vision impairment in an individual. Some people may also develop balance problems with age. 

    People who may have this syndrome possess it by birth, but they get it interpreted during childhood or teenage.

    Apart from it, the prediction for patients with Usher syndrome life expectancy is adequate. You will eventually become blind and deaf as a consequence of the condition. Neither moderate nor mild cases may cause early death, however.

    How is Usher Syndrome Inherited?

    All kinds of Usher syndrome are recessive inherited disorders. You can develop it from the mutated genes of your parents.

    In addition to this, this disorder occurs only when both parents possess the inadequate gene. If one of them do not possess the gene, the development of disease will not be there.

    Furthermore, the chances of having a baby by parents with mutated genes are 1 in 4 children.

    What Are The Symptoms Of Usher Syndrome?

    The Usher syndrome symptoms vary with severity and time when they begin to appear. However, typical symptoms include the following:

    • Hearing Loss

    Children with usher syndrome have severe deafness or hearing loss by birth. They develop such severity due to the gene mutations that affect nerve cells in the cochlea. The cochlea is a part of the inner ear that transmits sound. In some cases, few children may develop only moderate hearing loss later in life phases.

    • Vision Loss

    Children may also experience vision loss due to a condition known as Retinitis Pigmentosa (RP). RP causes the retina (the lens at the back of the eye) to lose its ability to work. The first few symptoms of retinitis pigmentosa are night blindness and difficulty seeing things in low light. 

    As the situation gets more problematic, peripheral or side vision of a person starts disappearing. Eventually, the condition of RP leads patients to permanent blindness.

    • Balance Problems

    The sense of balance depends on the input of your eyes and inner ear. Any damage to such sensory powers can lead to the development of balancing and coordinating issues.

    What Are The Types Of Usher Syndrome?

    There are three types of Usher syndrome, which are as follows:

    • Type 1 Usher Syndrome

    Babies born with Usher syndrome Type 1 develop severe deafness or hearing loss. They may also have balancing problems during infancy. Most babies with such a syndrome do not start walking till they become at least 18 months old. A person’s vision loss usually begins around the age of 10 and becomes increasingly problematic with age.

    You can consult a health care provider to get benefits from hearing aids or cochlear implants in case of appearance of symptoms.

    Additionally, parents should talk with their child’s specialist and other hearing health experts to find communication alternatives for their child. Proper intervention should start up instantly when the brain is most willing to learn a language, verbal or signed.

    • Type 2 Usher Syndrome

    Babies who have Usher syndrome Type 2  develop hearing loss. That hearing loss may range from moderate to severe. In addition, vision loss starts during the teenage years and continues to worsen. Children with such type of usher syndrome do not have balance problems. 

    Another thing is since the severity of hearing damage varies, most kids with type 2 Usher syndrome can verbally communicate and benefit from hearing support services.

    • Type 3 Usher Syndrome 

    Out of all usher syndrome types, this type is quite rare. Only 2% of the cases developed it. Under this kind of syndrome, patients suffer from normal hearing and vision loss by birth. Severe hearing loss begins during the late childhood period. 

    In case of the most severe vision loss, it starts during early to mid-adulthood age.

    Some people also witness happening of usher syndrome type 3 with the onset of night blindness. Half of those with Type 3 syndrome also have balancing disorders. 

    How is Usher Syndrome Diagnosed?

    Early diagnosis is essential to get any child the help they need. If your child starts experiencing changes in vision, hearing, or balance, consult your healthcare provider in no time to diagnose the reason. Your doctor can recommend the following tests keeping in view usher syndrome:

    • Hearing Tests

    Your audiologist measures the hearing ability of your child. He uses tests that check the ability to hear different kinds of sounds and frequencies.

    • Vision Tests

    Your ophthalmologist assesses the vision of your child. He looks for any damage to the retina, which is typical for people having retinitis pigmentosa.

    He can also do tests to measure the peripheral vision of your child. In addition, he can analyze other visual symptoms that might cause balance problems.

    • Genetic Tests

    These tests include a diagnosis of the presence of the Usher syndrome gene in the blood. A regular blood test can find any of the nine genes that cause usher syndrome.

    How Is Usher Syndrome Treated?

    Usher syndrome has no cure as of yet. But there are several methods you can adopt to manage living with usher syndrome. Here are some treatment procedures that focus on enhancing the communication and function ability of a person:

    • Hearing Aids

    People with mild or moderate hearing loss can obtain help from hearing aids and hearing assistive technology. These aids can be helpful, particularly for children with Type 2 or 3 Usher syndrome, as they have innate deafness later in life.

    • Cochlear Implants 

    Cochlear implants are helpful to restore some hearing in a child with severe hearing loss. These are very beneficial for children having Type 1 Usher syndrome.

    • Vision Aids

    There are various choices in regular prescription glasses that you can use to cope with partial or mild vision loss.

    • Vitamin A Supplements

    Researchers found that taking vitamin A supplements can slow down the impacts of retinitis pigmentosa to some level. You can consult your doctor about starting vitamin A supplements, especially if there is a possibility you might be pregnant.

    Some precautions you must regard while having vitamin A supplements:

    • Do not replace vitamin A palmitate with beta-carotene supplements.
    • Do not intake vitamin A supplements more than the suggested dose of 15,000 IU. Also, do not revise your diet to choose foods with increased levels of vitamin A.
    • Pregnant women should not intake high-dose vitamin A supplements due to the high stake of birth deformities.
    • Women supposed to get pregnant should avoid eating supplements of vitamin A for six months before attempting to conceive.
    • Clinical Trials

    Many ongoing types of research are going on to develop new therapies for the treatment of Usher syndrome. You can talk to your doctor about availing yourself of such clinical trials.

    Some other usher syndrome treatments that doctors suggest to people having varied symptoms of this disorder:

    • Speech and occupational therapies to tackle speech problems.
    • Orientation and mobility practice to help with balancing skills.
    • Counseling to support you and your kid in dealing with such a long-term health issue.

    Can Usher Syndrome Be Prevented?

    Usher syndrome appears because of the genes you have. At this time, there is no route to avoid it.

    However, genetic testing can determine if you and your spouse both hold the particular gene that causes this illness. Your genetic counselor can help you know the chances of passing the gene to your kids, especially if your family already has hearing loss. 

    Non-profit organizations such as the Usher Syndrome Coalition are devoted to helping families with children suffering from Usher syndrome. These organizations not only create awareness among families regarding the disease. But also work with researchers to formulate proper resource support regarding potential treatments and cures for this disorder. 

    Lastly

    Vision and hearing impairment combined with balance issues make it very challenging for a person to lead a successful and happy life. 

    Yet, with reasonable modifications to the environment and proper guidance, one can attain the appropriate management of such a life-long disorder.

    Do you still have doubts about Usher syndrome? Comment below to get them resolved.

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